Epilepsy Tuberous Sclerosis Clinic

What Is Tuberous Sclerosis Complex (TSC)?

Tuberous sclerosis complex (TSC) is a genetic disorder that can lead to the formation of benign tumor-like lesions in organs throughout the body. These primarily include the brain, eyes, heart, kidneys, lungs, oral cavity, and skin. TSC affects each person differently with some people having more manifestations than others. Some manifestations of TSC may appear at birth while others may not appear until a child is older.

How Common Is TSC & What Causes It?

TSC affects about 1 million people worldwide and occurs in about 1 in every 6,000 births. TSC can occur in any individual regardless of their background or gender.

TSC is a genetic disease that can be inherited from one parent with TSC or can result from a spontaneous genetic mutation. TSC is an autosomal dominant genetic condition, which means that children have a 50% chance of inheriting TSC if one of their parents has the condition. Researchers estimate that only one-third of TSC cases are known to be inherited while the other two-thirds result from a random and unpredictable mutation.

Related Symptoms & Conditions

Every child’s TSC clinical findings can vary and present differently. Seizures are the most common symptom leading to a diagnosis of TSC.

• Seizures and Epilepsy
• Most common neurological feature of TSC, with focal seizures occurring in 85% of patients with TSC

• Infantile Spasms
• Infantile spasms occur in about a third of children and most often occur in infancy

• Brain Findings
• Brain abnormalities may be seen in TSC, including cortical tubers, subependymal nodules, and subependymal giant cell astrocytoma (SEGA)

• Renal (Kidney) Symptoms
• Renal angiomyolipoma or non-cancerous tumors and are most common type of kidney lesion in TSC.
• Renal cysts

• Skin Symptoms
• Hypopigmented macules- white patches on the face, body or fingernails which maybe seen under ultraviolet light
• Shagreen patch- patch of skin that is tough or dimpled similar to that of an orange peel
• Facial angiofibroma- small red bumps or spot noted across nose, cheeks, chin

• Heart Symptoms
• Cardiac rhabdomyomas - Benign tumor that grows in clusters in the heart

• Eye Symptoms
• Retinal hamartomas - Nearly 50% of TSC have this involvement in one or both eyes, but vision loss is uncommon

• Development and Behavioral Symptoms
• TSC-Associated Neuropsychiatric Disorders (TAND)
• Behavioral
• Psychiatric
• Intellectual
• Academic
• Psychosocial
• Neuro-Psychological

What to Expect & Treatment

Currently, there is no known cure for TSC. Treatment for TSC is based on the symptoms and clinical findings of each child and can be unique for each person. Research is ongoing to advance treatment options for TSC. It is important to closely follow with your medical provider and obtain surveillance tests to obtain the most up to date information available. Some treatment options for children with seizures include medications (anti-seizure medications, mTOR inhibitors), the ketogenic diet, epilepsy surgery, and neuromodulation.

Diagnostic Tests & Surveillance Imaging/Procedures

• Electroencephalogram (EEG) to record electrical activity in the brain.
• Magnetic resonance imaging (MRI), a computerized tomography (CT) scan and/or ultrasound to locate any abnormal growths.
• Echocardiogram to view images of the heart and an Electrocardiogram (ECG or EKG) to monitor electrical activity of the heart.
• Blood work for genetic testing to identify gene mutations linked with tuberous sclerosis.

Make an Appointment

To schedule an appointment with a member of our team, call our Epilepsy Center at 312.227.3540, phone lines are open Monday–Friday, 8 a.m.–4 p.m. CST. Your child’s primary care provider or another provider caring for your child may also send a referral to our office, please fax this to 312.227.9644.

Resources & Support

• Tuberous Sclerosis Alliance
• Danny Did Foundation
• Make-A-Wish Foundation